rs797044469
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCAGA;CCAGA) | 0 | common in clinvar |
Make rs797044469(-;-) |
Make rs797044469(-;AGACC) |
Make rs797044469(AGACC;AGACC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 72228379 |
Gene | INPPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044469 |
dbSNP (classic) | rs797044469 |
ClinGen | rs797044469 |
ebi | rs797044469 |
HLI | rs797044469 |
Exac | rs797044469 |
Gnomad | rs797044469 |
Varsome | rs797044469 |
LitVar | rs797044469 |
Map | rs797044469 |
PheGenI | rs797044469 |
Biobank | rs797044469 |
1000 genomes | rs797044469 |
hgdp | rs797044469 |
ensembl | rs797044469 |
geneview | rs797044469 |
scholar | rs797044469 |
rs797044469 | |
pharmgkb | rs797044469 |
gwascentral | rs797044469 |
openSNP | rs797044469 |
23andMe | rs797044469 |
SNPshot | rs797044469 |
SNPdbe | rs797044469 |
MSV3d | rs797044469 |
GWAS Ctlg | rs797044469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044469(-;-) |
Alt | rs797044469(-;-) |
Reference | Rs797044469(CCAGA;CCAGA) |
Significance | Pathogenic |
Disease | Opsismodysplasia |
Variation | info |
Gene | INPPL1 |
CLNDBN | Opsismodysplasia |
Reversed | 0 |
HGVS | NC_000011.9:g.71939423_71939427delAGACC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032674.4, |